Background: Congenital Leukemia (CL) is a disorder that is very rare in newborns, most often originate from the myeloid series M4 / M5. Peripheral blood showed mononuclear cells with cytoplasmic bleb which is sometimes very difficult to distinguish between myeloid and lymphoid series. Acute megakaryocytic leukemia is a rare type of AML with an incidence of 0.5 per million per year and may accompanied by Down Syndrome. We report an AML-M7 case in a nenonate with Down syndrome. Case Description: A 3-day-old neonate was referred from RSIA Amanah Probolinggo with a suspected diagnosis of congenital leukemia and Down syndrome and main complaint of vomiting. Physical examination: Blood pressure 72/31 mmHg, pulse 137x/min; breathing 40x/ minute; temperature 36.5?C, body weight 2,700g, height 46cm, head circumference 33cm, jaundiced sclera, chest retraction, papular macular rash at abdomen, simian crease. Clinical chemistry: sodium 118 mmol/L, total bilirubin 7.36, CRP 11.6. Duodenal BOF atresia and duodenal web. Hematology: Hb 17.6 g/dl, MCV 90.4 fL, MCH 32.4 pg, MCHC 35.8 g / dl, WBC 58.00 x 103?L, platelets 74 x 103 / ?L, IPF 25.8%. Peripheral blood smear: Leukocytosis with 70% megakaryoblasts. Specific immunophenotyping against megakaryocytes CD 36 (+) and myeloid CD 33, CD 34, CD 117 series with CD7 aberration. The patient died at the age of 8 days. Discussion: Neonates with a clinical manifestasion of Down Syndrome, morphology of peripheral blood smear dominated by megakaryoblasts, increased IPF and immunophenotyping CD 36 (+) help diagnose Congenital Acute Megakaryocytic Leukemia. Conclusion: AML-M7 is a congenital leukemia which is established based on blood smears and immunophenotyping and is related to Down Syndrome.

AML-M7

congenital leukemia

Down Syndrome

leukemia